Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disease caused by mutations in the dystrophin gene. Approximately 10-15% of cases result from nonsense mutations (nmDMD), which ataluren targets to restore functional dystrophin. This review provides clinical guidelines for ataluren use and proposes an implementation model in Sweden.   The study conducted a targeted review of literature (1995-2018), including trials, guidelines, and commentaries on nmDMD and ataluren. It focused on treatment …

more

Wnt proteins are essential for tissue regeneration and intercellular signaling. This study focuses on Wnt7a, a protein secreted via extracellular vesicles (EVs) during muscle repair. Unlike traditional pathways, Wnt7a utilizes a unique mechanism involving a specific 18-amino acid sequence called the Exosome-Binding Peptide (EBP). EBP directs Wnt7a to EVs by binding to coatomer proteins (COPA and COPB2), which anchor the protein to the EV surface, enabling its bioactivity in long-range …

more

Exon skipping is a promising therapeutic strategy for Duchenne muscular dystrophy (DMD), a severe genetic disorder. By using antisense oligonucleotides (AOs), this method aims to restore a partially functional dystrophin protein. The study conducted a systematic review and meta-analysis of five randomized controlled trials (RCTs) involving 322 participants, focusing on two drugs: eteplirsen and drisapersen. The analysis evaluated outcomes such as the 6-minute walk test (6MWT), North Star Ambulatory Assessment …

more

Duchenne Muscular Dystrophy (DMD) is a severe genetic disorder caused by mutations in the dystrophin gene on the X chromosome. These mutations disrupt the production of the dystrophin protein, crucial for muscle stability and function. This review focuses on exon-skipping therapy, which uses genetic techniques to restore partial dystrophin production, converting the severe DMD phenotype to a milder Becker Muscular Dystrophy (BMD)-like condition. Exon-skipping therapy involves antisense oligonucleotides (AONs) that …

more

This study explored the effects of AVI-4658, a phosphorodiamidate morpholino oligomer (PMO), on exon skipping and dystrophin restoration in Duchenne muscular dystrophy (DMD) patients. The open-label, phase 2, dose-escalation trial enrolled 19 boys aged 5-15, treated with doses ranging from 0.5 to 20 mg/kg weekly for 12 weeks. The main aim was to evaluate safety, with secondary goals to assess pharmacokinetics and the efficacy of exon 51 skipping and dystrophin …

more

  This study explores the impact of voluntary exercise on the effectiveness of a gene therapy approach for Duchenne muscular dystrophy (DMD) using the D2-mdx murine model. DMD is caused by mutations in the dystrophin gene, leading to muscle damage and impaired regeneration. The research uses adeno-associated virus (AAV)-mediated U7 snRNA to skip a mutation-containing exon and restore dystrophin production. D2-mdx mice were treated with AAV-U7 and allowed to run …

more

This study addresses the challenges of aberrant pre-mRNA splicing in Pompe disease, caused by pathogenic variants in the acid α-glucosidase (GAA) gene. These variants often lead to the use of cryptic splice sites, resulting in disrupted protein production. The research proposes a pipeline to identify these splicing defects and correct them using antisense oligonucleotides (AONs).   The team developed a splicing assay to detect aberrant splicing patterns in patient-derived fibroblasts. …

more

1. Background and Purpose: Antisense oligonucleotide (AO)-mediated exon skipping is a promising strategy for treating genetic disorders like Duchenne Muscular Dystrophy (DMD). This method alters dystrophin pre-mRNA splicing to create a shorter but functional protein, potentially converting severe DMD into a milder Becker Muscular Dystrophy (BMD) phenotype. The paper highlights the significance of skipping exons 45–55, a common mutation area that could help nearly half of DMD patients.   2. …

more

We proudly present JIF Hub (Journal Impact Factors Hub), a user-friendly platform giving researchers instant access to Journal Impact Factors and key metrics. Whether you’re choosing where to publish or exploring journals in your field, JIF Hub has all the data you need.   What is JIF Hub? JIF Hub helps researchers efficiently find Journal Impact Factors by entering a journal's ISSN. It’s designed to simplify journal analysis and optimize …

more

I took some notes from the article and am happy to share them with anyone interested! The Problem: Antisense oligonucleotides (ASOs), which are designed to target and regulate specific genes, face two critical barriers limiting their therapeutic effectiveness: "endosomal entrapment” and “inefficient nuclear localization”. Only a small percentage of ASOs escape from endosomes to the cytosol and nucleus, preventing them from effectively modulating gene expression. The Potential Solution: Improving the …

more